ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576869
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1000977
ClinVar RCV Id:
RCV001297190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val1527Phe
CA394305002
NM_001114382.3:c.4579G>T